China
Africa
Explore chapters and articles related to this topic
Ichthyotic disorders
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
Conradi-Hünermann-Happle (CHH) syndrome is a rare X-linked dominant multisystem disorder. It occurs due to postzygotic mutation in the EBP (emopamil binding protein) gene on chromosome Xp11.23. It is characterized by linear ichthyosis, chondrodysplasia punctata, cataract, and short stature. The child is born with severe ichthyosiform erythroderma, and the scales are arranged in swirls and whorls along the lines of Blaschko. With age, ichthyosis improves and mild ichthyosis presents on the extremities along with follicular atrophoderma along the lines of Blaschko with hypopigmented and hyperpigmented streaks on the trunk. There may be persistent psoriasiform lesions in intertriginous areas (ptychotrophism) [15]. Localized scarring alopecia may be seen. Other features include asymmetrical skeletal involvement with stippled calcification of the epiphyseal region resulting in shortening of long bones, severe kyphoscoliosis, congenital dislocation of the hip, facial dysplasia, congenital heart defects, sensorineural deafness, renal anomalies, and ophthalmological changes like cataract, microphthalmia, and microcornea.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: chondrodysplasia punctata (CPD) is a clinically and genetically heterogeneous group of disorders characterised by abnormal punctate calcification of the bones (stippling). CDP X-linked recessive, brachytelephalangic type (CDPX1) is caused by mutations of ARSE, coding for the Golgi enzyme arylsulphatase-E. Sulphatases hydrolyse sulphate ester bonds in many molecules, including glycosaminoglycans, sulpholipids and steroid sulphates. In vitro studies demonstrate that warfarin inhibits ARSE function. CDP Conradi-Hünermann type (CDPX2) or X-linked dominant CPD, is the most well-characterised form and is caused by mutations in EBP, encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein, an enzyme involved in the biosynthesis of cholesterol. Rhizomelic CDP (RCDP) is caused by defective peroxisome metabolism and is transmitted in an autosomal recessive manner. The majority of patients affected by RCDP present the subtype RCDP1, determined by mutations in PEX7, encoding the peroxisomal targeting signal 2 receptor, which plays an important role in peroxisomal protein import. RCDP2 is caused by mutations in GNPAT, encoding dihydroxyacetone phosphate acyltransferase, RCDP3 is associated with mutations in AGPS, encoding peroxisomal alkyldihydroxyacetone phosphate synthase. The cause of CDP tibial-metacarpal type is currently unknown.
Can trophectoderm RNA analysis predict human blastocyst competency?
Published in Systems Biology in Reproductive Medicine, 2019
Panagiotis Ntostis, Georgia Kokkali, David Iles, John Huntriss, Maria Tzetis, Helen Picton, Konstantinos Pantos, David Miller
The edgeR exact test was used to reveal significantly differentially expressed (DE) transcripts between competent and incompetent blastocysts (Figure 1; please see Μaterials and Μethods supplementary file for full details). The DE transcripts belonged to 47 unique genes (Table 1). Given that the competent group represents normal TE expression levels, the current study focused on the significantly lower/higher expression levels of the incompetent blastocysts. Following normalization of the RNA sequencing results, 36 transcripts were found to be significantly down-regulated in these blastocysts with the remainder being up-regulated (FDR < 0.05). These included KH Domain Containing 1 Pseudogene 1 (KHDC1P1), the apoptosis regulator BCL2 Antagonist/Killer 1 (BAK1), suggesting a potentially significant regulatory function perhaps relating to an underlying apoptotic process. All DE transcripts had at least three-fold-change, apart from KH RNA Binding Domain Containing, Signal Transduction Associated 3 (KHDRBS3) and Emopamil Binding Protein (Sterol Isomerase; EBP) that were slightly lower at 2.7-fold.